Associated Papers
Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.
Prost R et al.
International Journal of Molecular Sciences, 2025
Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.
Elksne E et al.
Biomedicines, 2025
Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies.
Bolton EM et al.
Life (basel, Switzerland), 2025
Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.
Fuse N et al.
Japanese Journal of Ophthalmology, 2024
Exploring the Genetic Landscape of Childhood Glaucoma.
Pan Y et al.
Children (basel, Switzerland), 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Whole-exome screening for primary congenital glaucoma in Lebanon.
Makhoul NJ et al.
Ophthalmic Genetics, 2023
Genetics and Glaucoma: the state of the art.
Tirendi S et al.
Frontiers in Medicine, 2023
Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma.
Shah M et al.
Journal of Clinical Medicine, 2022
Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.
Shahid M et al.
Peerj, 2022
Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.
Haddad A et al.
European Journal of Ophthalmology, 2021
Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations.
Ivanoshchuk DE et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disorders.
Ma A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.
Waryah YM et al.
International Journal of Ophthalmology, 2019
Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.
Ou Z et al.
Bioscience Reports, 2018
Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.
Chouiter L et al.
Journal of Pediatric Genetics, 2017
Cyp1b1 Regulates Ocular Fissure Closure Through a Retinoic Acid-Independent Pathway.
Williams AL et al.
Investigative Ophthalmology & Visual Science, 2017
Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study.
Al-Haddad C et al.
Ophthalmic Genetics, 2016
Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.
Banerjee A et al.
Plos One, 2016
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent.
Rauf B et al.
Human Genome Variation, 2016
CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma.
Souzeau E et al.
Molecular Vision, 2015
MutaCYP: Classification of missense mutations in human cytochromes P450.
Fechter K et al.
Bmc Medical Genomics, 2014
CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment.
Chen X et al.
The British Journal of Ophthalmology, 2014
A clinical and molecular genetics study of primary congenital glaucoma in South Korea.
Suh W et al.
The British Journal of Ophthalmology, 2012
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.
Li N et al.
Experimental Eye Research, 2011
Primary Congenital Glaucoma and the Involvement of CYP1B1.
Kaur K et al.
Middle East African Journal of Ophthalmology, 2011
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.
Kim HJ et al.
Molecular Vision, 2011
Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population.
Fuse N et al.
Japanese Journal of Ophthalmology, 2010
Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma.
Choudhary D et al.
Pharmacogenetics and Genomics, 2008
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
Firasat S et al.
Molecular Vision, 2008
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.
Dimasi DP et al.
Clinical Genetics, 2007
Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.
Chakrabarti S et al.
Investigative Ophthalmology & Visual Science, 2006
Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma.
Ohtake Y et al.
The British Journal of Ophthalmology, 2003
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.
Sitorus R et al.
Journal of Medical Genetics, 2003
Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.
Mashima Y et al.
Investigative Ophthalmology & Visual Science, 2001
Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma(1).
Kakiuchi-Matsumoto T et al.
American Journal of Ophthalmology, 2001
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Faiq M et al.
Journal of Current Glaucoma Practice, 0